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NM_000321.2(RB1):c.2242G>T (p.Glu748Ter)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
2 (Most recent: Jul 18, 2016)
Last evaluated:
Jul 14, 2015
Accession:
VCV000013078.1
Variation ID:
13078
Description:
single nucleotide variant
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NM_000321.2(RB1):c.2242G>T (p.Glu748Ter)

Allele ID
28117
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q14.2
Genomic location
13: 48465028 (GRCh38) GRCh38 UCSC
13: 49039164 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.49039164G>T
NC_000013.11:g.48465028G>T
NG_009009.1:g.166282G>T
... more HGVS
Protein change
E748*
Other names
-
Canonical SPDI
NC_000013.11:48465027:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA026433
OMIM: 614041.0010
dbSNP: rs121913297
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Dec 21, 1989 RCV000013953.4
Likely pathogenic 1 no assertion criteria provided Jul 14, 2015 RCV000429561.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
RB1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
1542 1635

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Dec 21, 1989)
no assertion criteria provided
Method: literature only
SMALL CELL CANCER OF THE LUNG, SOMATIC
Allele origin: somatic
OMIM
Accession: SCV000034200.1
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)
Likely pathogenic
(Jul 14, 2015)
no assertion criteria provided
Method: literature only
Neoplasm
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000505679.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Prospective enterprise-level molecular genotyping of a cohort of cancer patients. MacConaill LE The Journal of molecular diagnostics : JMD 2014 PMID: 25157968
Oncogenic point mutations in the human retinoblastoma gene: their application to genetic counseling. Yandell DW The New England journal of medicine 1989 PMID: 2594029
http://docm.genome.wustl.edu/variants/ENST00000267163:c.2242G>T - - - -

Text-mined citations for rs121913297...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 08, 2021